Linked Data
ClinVar Variation Id:
1519869
ClinVar RCV Id:
RCV002024827
dbSNP Id:
rs753495990
ExAC:
14:92336592 T / C
gnomAD v2:
14-92336592-T-C
gnomAD v3:
14-91870248-T-C
gnomAD v4:
14-91870248-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91870248T>C , CM000676.2:g.91870248T>C | GRCh38 |
| NC_000014.8:g.92336592T>C , CM000676.1:g.92336592T>C | GRCh37 |
| NC_000014.7:g.91406345T>C | NCBI36 |
| NG_008254.1:g.82455A>G , LRG_364:g.82455A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557088.6:c.*1289A>G | ENSP00000451002.1:n.*1289A>G | |
| ENST00000557570.2:c.1155A>G | ENSP00000450787.2:p.Ile385Met | |
| ENST00000706675.1:n.1138A>G | ||
| ENST00000706676.1:c.1497A>G | ENSP00000516492.1:p.Ile499Met | |
| ENST00000706677.1:c.*107A>G | ENSP00000516493.1:n.*107A>G | |
| ENST00000706678.1:n.1243A>G | ||
| ENST00000706679.1:c.1155A>G | ENSP00000516494.1:p.Ile385Met | |
| ENST00000706680.1:c.*1166A>G | ENSP00000516495.1:n.*1166A>G | |
| ENST00000706681.1:c.*1062A>G | ENSP00000516496.1:n.*1062A>G | |
| ENST00000342058.9:c.1323A>G MANE Select | ENSP00000345008.4:p.Ile441Met | |
| ENST00000267620.14:c.1446A>G | ENSP00000267620.10:p.Ile482Met | |
| ENST00000342058.8:c.1323A>G | ENSP00000345008.4:p.Ile441Met | |
| ENST00000554121.2:n.449A>G | ||
| ENST00000556154.5:c.1338A>G | ENSP00000451982.1:p.Ile446Met | |
| ENST00000556961.1:n.1458A>G | ||
| NM_006329.3:c.1323A>G , LRG_364t1:c.1323A>G | NP_006320.2:p.Ile441Met | |
| XM_005267267.3:c.1374A>G | XP_005267324.1:p.Ile458Met | |
| XM_011536356.1:c.*107A>G | XP_011534658.1:n.*107A>G | |
| XM_011536357.1:c.*107A>G | XP_011534659.1:n.*107A>G | |
| XM_011536358.1:c.*107A>G | XP_011534660.1:n.*107A>G | |
| XM_011536357.2:c.*107A>G | XP_011534659.1:n.*107A>G | |
| XM_011536358.2:c.*107A>G | XP_011534660.1:n.*107A>G | |
| XM_017020929.2:c.1155A>G | XP_016876418.1:p.Ile385Met | |
| NM_001384158.1:c.1446A>G | NP_001371087.1:p.Ile482Met | |
| NM_001384159.1:c.1374A>G | NP_001371088.1:p.Ile458Met | |
| NM_001384160.1:c.*107A>G | NP_001371089.1:n.*107A>G | |
| NM_001384161.1:c.*107A>G | NP_001371090.1:n.*107A>G | |
| NM_001384162.1:c.1155A>G | NP_001371091.1:p.Ile385Met | |
| NM_006329.4:c.1323A>G MANE Select | NP_006320.2:p.Ile441Met |